ClinVar

NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

• Chr2: 71611548 (on Assembly GRCh38)
• Chr2: 71838678 (on Assembly GRCh37)

Preferred name:

NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)

HGVS:

• NC_000002.12:g.71611548C>T
• NG_008694.1:g.162926C>T
• NM_001130455.2:c.4092C>T
• NM_001130976.2:c.4047C>T
• NM_001130977.2:c.4047C>T
• NM_001130978.2:c.4089C>T
• NM_001130979.2:c.4182C>T
• NM_001130980.2:c.4140C>T
• NM_001130981.2:c.4140C>T
• NM_001130982.2:c.4185C>T
• NM_001130983.2:c.4092C>T
• NM_001130984.2:c.4050C>T
• NM_001130985.2:c.4143C>T
• NM_001130986.2:c.4050C>T
• NM_001130987.2:c.4143C>TMANE SELECT
• NM_003494.4:c.4089C>T
• NP_001123927.1:p.Gly1364=
• NP_001124448.1:p.Gly1349=
• NP_001124449.1:p.Gly1349=
• NP_001124450.1:p.Gly1363=
• NP_001124451.1:p.Gly1394=
• NP_001124452.1:p.Gly1380=
• NP_001124453.1:p.Gly1380=
• NP_001124454.1:p.Gly1395=
• NP_001124455.1:p.Gly1364=
• NP_001124456.1:p.Gly1350=
• NP_001124457.1:p.Gly1381=
• NP_001124458.1:p.Gly1350=
• NP_001124459.1:p.Gly1381=
• NP_003485.1:p.Gly1363=
• LRG_845t1:c.4089C>T
• LRG_845t2:c.4143C>T
• LRG_845:g.162926C>T
• LRG_845p1:p.Gly1363=
• LRG_845p2:p.Gly1381=
• NC_000002.11:g.71838678C>T
• NM_003494.3:c.4089C>T
• p.Gly1363Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs145412880

NCBI 1000 Genomes Browser:

rs145412880

Molecular consequence:

• NM_001130455.2:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130976.2:c.4047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130977.2:c.4047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130978.2:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130979.2:c.4182C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130980.2:c.4140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130981.2:c.4140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130982.2:c.4185C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130983.2:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130984.2:c.4050C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130985.2:c.4143C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130986.2:c.4050C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130987.2:c.4143C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003494.4:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

9